🧬 基因注释：PARS2
📝 官方信息
官方名称：prolyl-tRNA synthetase 2, mitochondrial
功能摘要：This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录